Varaico: Literature-Extracted Genetic Variants

Gene:ATP9B
Variant:p.V795fs

ATP9B

74 papers

Pfam Domains

PhoLip_ATPase_Naa 114–183UCSCPhospholipid-translocating ATPase N-terminal
E1-E2_ATPaseaa 213–360UCSCP-type ATPase actuator domain
Hydrolaseaa 641–886UCSChaloacid dehalogenase-like hydrolase
PhoLip_ATPase_Caa 900–1140UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 9B (putative)

HGNC Alias Symbol

ATPIIB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198531.5
p.V795fs
c.2383_2384fs
Surrounding Variants
1 paper
NM_198531.5
p.G799R
c.2395G>A
1 paper
NM_198531.5
p.G799R
c.2395G>C
1 paper
NM_198531.5
p.A885T
c.2653G>A
1 paper
NM_198531.5
p.R911W
c.2731C>T
1 paper
NM_198531.5
p.R922Q
c.2765G>A
1 paper
NM_198531.5
p.V958I
c.2872G>A
1 paper
NM_198531.5
p.M732L
c.2194A>C
1 paper
NM_198531.5
p.M732L
c.2194A>T
1 paper
NM_198531.5
p.S705N
c.2114G>A
1 paper
NM_198531.5
p.E704_S705Splc
c.2113-93C>A
1 paper
NM_198531.5
p.E704delFs
c.2112delG
1 paper
NM_198531.5
p.E704fs
c.2110_2111fs
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